By Joann Paley Galst, Marion S. Verp

This ebook goals to extend the attention and knowing of the emotional sequelae of prenatal/preimplantation prognosis, prenatal decision-making, being pregnant interruption for fetal anomaly, multifetal relief for high-order multifetal pregnancies and preimplantation offerings regarding the choice of embryos. that includes a multi-disciplinary method, it examines prenatal and preimplantation analysis from clinical, felony, moral and psychosocial views. Prenatal and Preimplantation Diagnosis is a superb source for obstetricians, reproductive endocrinologists, medical geneticists, genetic counselors and psychological healthiness pros trying to greater help sufferers confronted with tough offerings.

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Several large scale studies of cff DNA testing in high-risk populations (advanced maternal age, prior history of an aneuploid fetus, known parental rearrangement, ultrasound suspicious for trisomy 21, 18, 13, abnormal screening test) have now been published (Bianchi et al. 2012; Nicolaides et al. 2013; Norton et al. 2012; Palomaki et al. 2011). All have shown a very high sensitivity and specificity, but the positive predictive value of the test is dependent on the a priori risk of the patient. For example, there is a higher chance that a 42-year-old woman with an abnormal cell free DNA screen for trisomy 21 is actually carrying a fetus with trisomy 21, compared to the chance of a 26 year old woman with the same screen result.

The presence or absence of these markers in the fetal cells can then be used to infer the presence of the abnormal gene. Diagnosis of many rare Mendelian disorders is only available in a limited number of laboratories. Genetic counseling is almost always helpful in these complicated cases. Future: Whole-Genome Sequencing (WGS) Rather than interrogating or sequencing individual parts of the human genome, some far-sighted investigators have suggested sequencing the entire fetal genome (or just the coding portion: whole-exome sequencing [WES]) in an attempt to anticipate and, optimally, successfully treat genetic disorders.

Only large chromatin segments are therefore interrogated because BAC arrays are large; thus only large (5 or 10 Mb: 5,000,000–10,000,000 base pairs) abnormalities are detected, much like a karyotype. The dilemma of disclosing or not disclosing smaller copy number variants (200 kb), which have increased likelihood of variants uncertain clinical significance (VOUS), does not arise in PGD diagnostics. Thus, PGD differs from prenatal genetic diagnosis; VOUS arises more often when analyzing chorionic villi or amniotic fluid cells.

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